宫内出现的7号染色体长臂末端缺失，伴有共同动脉干和非免疫性水肿。
Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops.
作者信息
Finley B E, Seguin J H, Bennett T L, Ardinger R, Burlbaw J, Levitch L, Keifer C, Pasztor L
机构信息
Department of Obstetrics and Gynecology, University of Kansas Medical Center, Kansas City 66160.
出版信息
Am J Med Genet. 1993 Aug 15;47(2):221-2. doi: 10.1002/ajmg.1320470216.
PMID:8213909
Abstract
Terminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus.
摘要
7号染色体长臂末端缺失会出现多种解剖学和发育方面的表现。该病例是首例基于细胞遗传学结果进行宫内诊断，并在宫内证实因共同动脉干导致的充血性心力衰竭得到缓解的报告。
Zotero 插件